Results 41 to 50 of about 474 (133)

Ethnic Bridging of Sepiapterin in Chinese and Korean Populations Based on Predictions From Genetic Polymorphism of Breast Cancer Resistance Protein. [PDF]

Clin Transl Sci
ABSTRACT Ethnic differences are crucial when considering the efficacy, safety, and dose of pharmaceuticals across diverse populations. The International Council for Harmonization of Technical Requirements for Pharmaceuticals for Human Use (ICH) guideline E5 addresses the acceptability of extrapolating foreign clinical data taking ethnic factors into ...
Gao L, Smith N, Kong R.
europepmc   +2 more sources

Nutritional Counseling Promotes Adherence to the Mediterranean Diet and Healthy Eating in Italian Patients Affected by Phenylketonuria and Treated with Pegvaliase. [PDF]

Nutrients
Background/Objectives: Pegvaliase, a subcutaneous therapy to treat phenylketonuria (PKU), has allowed these patients to maintain adequate phenylalanine (Phe) blood values without following a Phe-controlled diet; this brings up the challenge of promoting ...
Stecchi M, Rossi A, Santoni M, Bandini F, Brodosi L.   +4 more
europepmc   +2 more sources

Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria. [PDF]

J Inherit Metab Dis
ABSTRACT Phenylketonuria (PKU) is a rare metabolic disorder causing elevated phenylalanine (PHE) levels requiring lifelong dietary or pharmacological management and regular monitoring. Current PHE monitoring methods, such as tandem mass spectrometry (FIA‐MS/MS), are laboratory and sample transport‐dependent, leading to delays in obtaining results. This
Gondrand C, Reischl-Hajiabadi AT, Bonedeau E, Weiß N, Schneider G, Fahn M, Myers F, Städle PM, Jeltsch K, Hoffmann GF, Okun JG, Haas D, Garbade SF, Johnsson K, Opladen T.   +14 more
europepmc   +2 more sources

Relationship Between Gut Microbiota and Phenylalanine Levels: A Mendelian Randomization Study. [PDF]

Microbiologyopen
This study showed that Family XIII AD3011 group was associated with reduced Phe levels, providing important evidence to reveal the interaction between gut microbiota and Phe levels, and providing a scientific basis for the development of personalized diet and nutrition recommendations for PKU patients.
Liu Z, Ye M, Jin H, Chen W, Jieens H, Han R.   +5 more
europepmc   +2 more sources

In-Depth SequenceFunction Characterization Reveals Multiple Pathways to Enhance Enzymatic Activity

, 2022
Deep mutational scanning (DMS) has recently emerged as a powerful method to study protein sequence–function relationships but is not well-explored as a guide to enzyme engineering and identifying of pathways by which their catalytic cycle may be improved.
Naveen B. Krishna (12029923), Todd C. Chappell (8284143), Todd C. Chappell, Gladstone G. Sigamani (12029929), Nikhil U. Nair, Vikas D. Trivedi (11847266), Naveen B. Krishna, Pravin Kumar R (12029935), Gladstone G. Sigamani, Anuj Shetty, Pravin Kumar R, Karishma Mohan, Athreya Ramesh, Nikhil U. Nair (8284146), Anuj Shetty (12029926), Karishma Mohan (11847269), Athreya Ramesh (12029932), Vikas D. Trivedi   +17 more
core   +4 more sources

P001: Outcomes In 14 live births resulting from pegvaliase-treated pregnancies in females with PKU*

Genetics in Medicine Open
Caide Bier, Kaelin Dickey, Hans Andersson, Markey McNutt, Danielle Vice, Erin Cooney, Megan Morand, Joseph Ray, Rebecca Sponberg, Richard Chang, Monica Boyer, Brittan Bibb, Angela Crutcher, Melissa Lah, Laura Davis-Keppen, Cindy Matthes   +15 more
doaj   +2 more sources

Two-year interim safety and efficacy of pegvaliase in Japanese adults with phenylketonuria

Molecular Genetics and Metabolism, 2023
Phenylketonuria (PKU) is an inborn error of metabolism caused by deficiency of phenylalanine hydroxylase, resulting in high blood phenylalanine (Phe) concentrations with potential for impaired neurocognition. Pegvaliase, a pegylated recombinant phenylalanine ammonia lyase that metabolizes Phe, is approved for use in adults with PKU and high blood Phe ...
Mika, Ishige, Tetsuya, Ito, Takashi, Hamazaki, Mitsuhiro, Kuwahara, Lawrence, Lee, Haruo, Shintaku   +5 more
openaire   +2 more sources

Additional file 1 of Italian national consensus statement on management and pharmacological treatment of phenylketonuria

, 2021
Additional file 1: A thorough dissertation about literature and discussion among the SC for some clinical topics: Multidisciplinary team, Follow-up, Sapropterin dihydrochloride during pregnancy, Sapropterin efficacy, Pegvaliase induction, titration and ...
Marco Spada (236228), Juri Zuvadelli (11388053), Sabrina Paci (9672446), Francesca Pochiero (6040706), Alberto Burlina (3543140), Maria Teresa Carbone (9672443), Giacomo Biasucci (11716503), Chiara Cazzorla (11716506), Albina Tummolo (9672449), Vincenzo Leuzzi (500280)   +9 more
core   +1 more source

A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system

Molecular Genetics and Metabolism Reports, 2023
Phenylketonuria is an inborn error of phenylalanine metabolism caused by a phenylalanine hydroxylase deficiency. To prevent the occurrence of neurological symptoms and maternal complications resulting from phenylketonuria, patients must adhere to a ...
Yoichi Wada, Eriko Totsune, Yasuko Mikami-Saito, Atsuo Kikuchi, Toshio Miyata, Shigeo Kure   +5 more
doaj   +1 more source

Escherichia coli in the production of biopharmaceuticals. [PDF]

Biotechnol Appl Biochem
Abstract Escherichia coli has shouldered a massive workload with the discovery of recombinant DNA technology. A new era began in the biopharmaceutical industry with the production of insulin, the first recombinant protein, in E. coli and its use in treating diabetes. After insulin, many biopharmaceuticals produced from E. coli have been approved by the
İncir İ, Kaplan Ö.
europepmc   +2 more sources